Canonical Allele Identifier: CA497694605

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128404A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225085A>T , CM000679.2:g.7225085A>T	GRCh38
NC_000017.10:g.7128404A>T , CM000679.1:g.7128404A>T	GRCh37
NC_000017.9:g.7069128A>T	NCBI36
NG_007975.1:g.10252A>T
NG_033038.1:g.14460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1956A>T MANE Select	ENSP00000349297.5:p.Pro652=
ENST00000322910.9:c.*1911A>T	ENSP00000325395.5:n.*1911A>T
ENST00000350303.9:c.1890A>T	ENSP00000344152.5:p.Pro630=
ENST00000356839.9:c.1956A>T	ENSP00000349297.5:p.Pro652=
ENST00000542255.6:c.835A>T
ENST00000543245.6:c.2025A>T	ENSP00000438689.2:p.Pro675=
ENST00000578033.1:n.381A>T
ENST00000578319.5:n.537A>T
ENST00000578711.1:n.1581A>T
ENST00000578809.5:n.528A>T
ENST00000579425.5:n.1072A>T
ENST00000583848.5:c.322A>T	ENSP00000466487.1:n.322A>T
ENST00000583850.5:n.727A>T
ENST00000583858.5:c.887A>T
NM_000018.3:c.1956A>T	NP_000009.1:p.Pro652=
NM_001033859.2:c.1890A>T	NP_001029031.1:p.Pro630=
NM_001270447.1:c.2025A>T	NP_001257376.1:p.Pro675=
NM_001270448.1:c.1728A>T	NP_001257377.1:p.Pro576=
XM_006721516.2:c.1977A>T	XP_006721579.2:p.Pro659=
XM_011523829.1:c.1875A>T	XP_011522131.1:p.Pro625=
XM_011523830.1:c.1854A>T	XP_011522132.1:p.Pro618=
XR_934021.1:n.2059A>T
XR_934022.1:n.1965A>T
XR_934023.1:n.1986A>T
XM_006721516.3:c.1977A>T	XP_006721579.2:p.Pro659=
XM_011523829.2:c.1875A>T	XP_011522131.1:p.Pro625=
XM_011523830.2:c.1854A>T	XP_011522132.1:p.Pro618=
XM_024450741.1:c.1944A>T	XP_024306509.1:p.Pro648=
XR_934021.2:n.2011A>T
XR_934022.2:n.1917A>T
XR_934023.2:n.1938A>T
NM_000018.4:c.1956A>T MANE Select	NP_000009.1:p.Pro652=
NM_001033859.3:c.1890A>T	NP_001029031.1:p.Pro630=
NM_001270447.2:c.2025A>T	NP_001257376.1:p.Pro675=
NM_001270448.2:c.1728A>T	NP_001257377.1:p.Pro576=